Resumen

PAIS, Patrícia et al. Approach to renal glycosuria in children: a case report. Nascer e Crescer [online]. 2014, vol.23, n.1, pp.29-31. ISSN 0872-0754.

Introduction: The accidental finding of glycosuria should lead to the exclusion of diabetes mellitus. In the absence of hyperglycemia, glycosuria is probably of renal origin. It can be isolated, as in familiar renal glycosuria, or it can be part of a hereditary tubular disorder such as Fanconi-Bickel syndrome or associated with an acquired tubular dysfunction. The renal and tubular function should be investigated. Case report: The authors describe the case of a previously healthy five-year old child with persistent glycosuria of renal cause. The investigation showed the coexistence of elevated renal excretion of glycine. Discussion: Familiar renal glycosuria and hyperglycinuria are caused by genetic defects in different renal tubular membrane transporters. The rare association of glycosuria and glycinuria was only described in one family in the 1960’s.The authors discuss the possible pathophysiologic mechanisms of this association and the importance of studying other tubulopathies in a child with glycosuria as it has prognostic and clinical management implications.

Palabras clave : Aminoaciduria; familial renal glycosuria; glucosuria; glycinuria; SGLT2; SLC5A2.

        · resumen en Portugués     · texto en Inglés     · Inglés ( pdf )